Imagine voluntarily giving up your favorite food for forty days. If you are one of the millions of Christians worldwide who observe Lent, this is likely a familiar exercise for you. This has been my experience for the past 10 years or so, and it’s a challenge that I have come to look forward to most years.
Now imagine giving up multiple common foods for an entire year or so, not for your own benefit but for the good of someone else. Eating just to maintain your own well-being becomes exponentially more challenging and often requires careful advance planning. Social eating—at restaurants, parties, and staff meetings—becomes almost impossible. This has been my experience for the past five months, since we discovered that our daughter has sensitivities to dairy, soy, wheat, and possibly corn—the four most common sources of the additives that are found in most prepared (grocery and restaurant) foods. I’d like to say that I have handled this challenge with the grace and equanimity that Lent seems to inspire, but I can’t. Even knowing that it’s for my daughter’s good, and, in the grand scheme of life, is only for a fleeting moment, it’s been a long, tough road—and it’s not over yet. Only after meeting with a feeding specialist a few weeks ago have I begun to make peace with this reality.
NOW imagine having to give up eating anything at all for the rest of your life. Nothing by mouth ever again. You can go out with your family and friends to a restaurant, but while they get to choose anything they like off the menu, the only thing you’ll be enjoying is the conversation. And this reality will be your new normal—it will never be otherwise. How would you feel? Sad? Angry? Bitter? Finally, imagine that the recipient of this diagnosis isn’t you, but your young son or daughter. What other emotions would you add to the list? This is my two year-old nephew’s experience, and the experience of thousands of other children who have gastro-intestinal complications of mitochondrial disease.
Mitochondrial disease is actually a blanket term for a number of chronic, genetic conditions and complexes--some of which haven’t even been named yet—that involve the failure of not just organs but entire systems of organs within the body. These organs fail because the mitochondria—the parts of the cell that convert the proteins, fats and carbohydrates in food into the energy needed for the cells to perform their various functions—fail, causing injury and even death to the cell they occupy. Mitochondrial disease is difficult to detect, in part because it is so poorly understood, and in part because doctors understandably focus their attention on the secondary conditions the disease causes. Typically, mitochondrial disease is considered when three different organ systems appear to be affected, or when a secondary disease presents with atypical symptoms, but even then it can take years for a diagnosis. For up-to-date, reputable information about mito, check out Mito Action and the UMDF website.
My sweet, smiling nephew, Taavi, has struggled with a host of health issues since his birth nearly two years ago. He has had severe GERD (reflux) from the beginning, and it ultimately had to be treated with a surgical (“Nissen”) procedure and the placement of his first feeding tube at 8 months. At nine months, even with the addition of extra calories to the formula fed to him via the g-tube, he stopped gaining weight and was diagnosed as failure to thrive. A gastric emptying test a few months later determined that his digestive was essentially paralyzed and therefore unable to digest food and absorb the nutrients needed for life and growth--a condition known as gastroparesis, for which there is no cure. Taavi has been dependent on his feeding tubes ever since, and he will remain dependent on them for the rest of his life, unless a cure is found. In addition to his digestive troubles, he has also been diagnosed with hip dysplasia (corrected surgically at 5 months of age), gross developmental delays that began to be apparent as early as his first month, thrombocytopenia (a low platelet count that caused a minor brain hemorrhage at birth and left him with two lesions on his brain), Sandifer’s syndrome (seizure-like spasms related to severe GERD), hypotonia (low muscle tone), conductive hearing loss and mastoid disease, dysphagia (difficulty swallowing), feeding intolerance, intestinal dysmotility, ataxia (lack of control over muscle movements), apraxia (hard to describe; read this page for more information), an inability to regulate his body temperature, increased sensitivity to pain, and strabismus (crossed eyes). About a year ago, his doctors began to fit the pieces together. They suspected a metabolic disorder of some kind and eventually diagnosed him with mitochondrial disease. He has spent much of his short life so far being poked, prodded, tested, and operated on. Yet he has a ready smile for those he interacts with.
Well-meaning people, on learning of Taavi’s disease, will often comment on how good he looks. No doubt they hope to encourage his parents by their remarks, but as the mother of a slow-gaining refluxer myself, I can tell you that these comments actually have just the opposite effect—they make you doubt your own instincts when you know things aren’t right, and they can make it difficult to get your child the help s/he needs. Taavi may, indeed, look good at times, but he is still a very sick little boy. He has retained the failure to thrive diagnosis, as he has difficulty taking in the volume of food that he needs to grow and develop even through the feeding tubes. The food just sits in the stomach until there’s no more room. A few weeks ago, the surgeons recently replaced his g-tube (a tube that goes into the stomach) with a g-j tube (a tube with multiple ports that go into the stomach and intestines) in hopes that bypassing the stomach would enable him to take in a larger volume of food, but his muscles are thickened and his intestines were impacted, causing the inner tube to be forced up against the bowel wall. This caused an immense amount of pain, and since he could no longer tolerate his feedings, he quickly became dehydrated and ill. So, only a few days later, Taavi had to be readmitted to the hospital to have another procedure done and another tube—a j tube—placed. We remain hopeful that the doctors will find a workable solution to ensure that Taavi can tolerate his feedings and receive the nutrition he needs to grow and develop, but the sobering reality is that without a functioning feeding tube, Taavi will die of dehydration and starvation. And even without the gastroparesis, the nature of mitochondrial disease means that he could be fighting for his life at any time.
It’s hard to write this post. It’s hard to think about the possibility of losing someone dear to you, and even harder to think about that person being so young a child. Hardest of all is realizing that your own brother-in-law, sister-in-law (OK—technically Taavi’s mom is “my brother-in-law’s wife” but that sounds way too distant and unfeeling for someone I hold dear), and niece may lose a beloved son and brother if a solution cannot be found. And right now, there is no cure for either gastroparesis or the mitochondrial disease that has caused it. The medical community has only recently begun to understand the function and importance of cellular mitochondria. Yet, the latest statistics estimate that mito occurs as frequently as cystic fibrosis or childhood cancer—and claims more lives. And these are only the confirmed cases. Many others go undiagnosed.
As I write this difficult post, it is the end of Mitochondrial Disease Awareness Week. Taavi is in the hospital, recovering from his latest, emergency, surgery. His parents and others who love him are waiting on the latest round of test results and praying for some answers and solutions, and, ultimately, a cure. And that’s where you come in. Unlike Taavi’s father and uncle, I am not a runner and cannot participate in a charity run. But I can write, and I can use this blog for something more important than my usual ranting about the deplorable state of our educational system. Now that I’ve made you aware of this debilitating disease, would you join with us in praying for this special little boy and thousands of others like him? Would you take a few minutes to pass on this post or the links to the mitochondrial disease websites to just one more person, to help spread the word? Would you consider making a donation (through the websites above) that would fund some much needed research? It’s not just about my nephew—if you consider the statistics, there’s a good chance that someone you know personally is or will be affected by this disease. Massive fundraising and awareness campaigns have resulted in great strides toward treating and curing childhood cancers and other debilitating illnesses. They are all worthy causes. Let’s get busy and add mitochondrial disease to that list. Thanks for reading. And if you would like to keep up with how Taavi is doing, please check out his website at Caring Bridge.